Having sequencing, analysis and counseling in one place helps us provide seamless care and meaningful results

Clinical Genomics Program

The Stanford Clinical Genomics Program is a partnership between Stanford Health Care and Stanford Children’s Health that brings the diagnostic power of whole-exome sequencing to children with undiagnosed genetic conditions. Our multidisciplinary team can identify the underlying genetic basis for a patient’s condition in nearly a third of cases, which may provide important information that can be used to guide decisions about the patient’s treatment or medical care.

Rather than looking at all three billion base pairs of the human genome, whole-exome sequencing examines the approximately 21,000 protein-coding genes that are most likely to cause disease. From those, a Stanford-built software platform narrows down the results to about 100 gene variants. Then, our molecular genetics pathologists, who are experts with a deep knowledge of the exome and the patient’s medical history, analyze and interpret the data manually and compare each gene variant with those found in scientific literature.

Why Choose Stanford?

Stanford has a long history of expertise in genomic sequencing analysis and interpretation, as well as with clinical genetic testing. Stanford Health Care and Stanford Children’s Health are two of a small number of U.S. hospitals that offer clinical whole-exome sequencing in-house. By offering this testing in-house, the Stanford team that is responsible for interpreting the test will be in close communication with the patient’s care team. With such a complicated test, this communication is critical to ensure the test yields the most meaningful result possible.

Tessa's mystery condition gets a diagnosis

Within hours of her birth in 2003, Tessa Nye began having seizures. At the time, little was known about the cause of her severe form of epilepsy despite years of trial-and-error testing. Learn how whole-exome sequencing helped identify a single-gene mutation that was causing her seizures.

Working to end the diagnostic odyssey

Whole-exome sequencing scans roughly 21,000 genes to help find the underlying genetic basis for a patient’s condition. We find a match in nearly a third of cases, which may provide important information that can be used to guide decisions about the patient’s care.